Hereditary Spastic Paraplegia in Koreans: Clinical Characteristics and Factors Influencing the Disease Severity

Background@#and Purpose Hereditary spastic paraplegia (HSP) progresses over time and is associated with locomotive dysfunction. Understanding the factors affecting disease severity and locomotive function is important in HSP. This study investigated the factors influencing disease severity and ambulation status of HSP. @*Methods@#We consecutively enrolled 109 Korean patients (64 males, and 45 females)from 84 families with a clinical diagnosis of HSP. HSP was primarily diagnosed based on clinical criteria including clinical findings, family history, and supported by genetic studies. Epidemiological and clinical features of the patients were analyzed, and the Spastic Paraplegia Rating Scale (SPRS) score and ambulatory status were used to evaluate disease severity. @*Results@#Ninety-two (84.4%) patients had pure HSP, and 55 (50.4%) had a dominant family history. Thirty-one (28.4%) patients required a mobility aid for locomotion. A Kaplan-Meier analysis showed that HSP patients lost their independent gait ability after a median disease duration of 34 years. Those with an age at onset of ≤18 years had a longer median independent walking time. Pure HSP is characterized by predominant bilateral lower extremity weakness and spasticity, whereas complicated HSP presents more complex neurological findings such as ocular and bulbar symptoms, ataxia, and cognitive impairment. Complicated HSP was significantly correlated with the SPRS mobility score (β=3.70, 95% confidence interval=0.45–6.94). The age at onset and disease duration were significantly correlated with disease severity, and they were significant predictors of the use of a mobility aid (p<0.05). @*Conclusions@#These findings suggest that a later age at onset and longer disease duration are significant factors affecting the disease severity and ambulatory function in patients with HSP. These findings can help clinicians to identify subjects at risk of locomotive impairment.

Significance of Sufficient Neck Flexion During Magnetic Resonance Imaging in the Diagnosis of Hirayama Disease: Report of Two Cases

It is difficult to distinguish Hirayama disease (HD) from other mimicking disorders in adolescent patients with distal upper limb weakness. The prevailing theory of HD postulates that the lower cervical cord is susceptible to compression during neck flexion because of insufficient growth of the dura relative to the spinal column. Confirmation of a dynamic change in the dorsal epidural space on magnetic resonance imaging (MRI) during neck flexion is essential for diagnosing HD. However, neck flexion MRI has not been routinely performed in juvenile patients with distal upper limb weakness in the absence of suspected HD. We report two cases of HD that were initially confused with other diseases because of insufficient or absent cervical flexion during MRI. Full-flexion MRI showed typical findings of HD in both cases. Our cases suggest that dynamic cervical MRI in the fully flexed position is necessary for evaluating suspected HD.

Characteristics of Korean Patients with Polymyalgia Rheumatica: a Single Locomotive Pain Clinic Cohort Study

BACKGROUND: Polymyalgia rheumatica (PMR) is a common systemic inflammatory disease of the elderly; however, the clinical characteristics and therapeutic response of PMR in Korea have been rarely studied. METHODS: We reviewed the medical records of 54 Korean patients diagnosed with PMR between January 2009 and February 2017 in a locomotive pain clinic of one tertiary referral hospital. We analyzed epidemiologic and clinical characteristics, therapeutic responses, and prognostic factors for remission-failure at one-year after oral prednisolone treatment. RESULTS: In 54 patients with PMR, 32 (59.3%) were female. The average age at diagnosis was 65.0 ± 10.5 years. Duration of symptoms before diagnosis was 8.1 ± 8.6 months. All patients had shoulder pain (54 patients, 100.0%); 49 patients (90.7%) had hip girdle pain, while 19 patients (35.2%) had peripheral joint pain. Four patients (7.4%) were accompanied by the giant cell arteritis (GCA). There was no seasonal preference for symptom development. Only 19 patients were diagnosed with PMR at initial symptom presentation. At one-year follow-up after oral prednisolone treatment, the remission rate was 35.3% (12/34). Multivariate analysis showed that history of relapse (odds ratio, 6.81; 95% confidence interval, 1.035–44.804) was a significant predictor of remission-failure. CONCLUSION: The rate of remission (35.3%) after oral prednisolone treatment was similar to previous reports in western countries; and GCA is not a rare condition in Korean PMR patients. Misdiagnosis of PMR is common, and heightened consideration for PMR is needed in elderly patients who present inflammatory features of bilateral shoulder pain.

Acute Paraplegia After Lumbar Steroid Injection in Patients With Spinal Dural Arteriovenous Fistulas: Case Reports

Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. However, SDAVFs are still underdiagnosed entities because their clinical symptoms are usually non-specific, as they include low back pain or radiating pain to the limb. There have been several reports of acute paraplegia after lumbar epidural steroid injections in patients with SDAVFs. We present 4 patients with SDAVFs who received lumbar steroid injection. Among the 4 cases, acute paraplegia developed in 2 cases that received a larger volume of injectate than the other cases. Thus, we are suggesting that the volume of injectate may be a contributing factor for acute paraplegia after lumbar steroid injection in patients with SDAVFs.

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.

Reliability, Validity, and Responsiveness of the Korean Version of the Shoulder Disability Questionnaire and Shoulder Rating Questionnaire

OBJECTIVE: To translate, adapt, and test the reliability, validity, and responsiveness of the Korean version of the Shoulder Disability Questionnaire (SDQ) and the Shoulder Rating Questionnaire (SRQ). METHODS: The international guideline for the adaptation of questionnaires was referenced for the translation and adaptation of the original SDQ and SRQ. Correlations of the SDQ-K and SRQ-K with the Shoulder Pain and Disability Index (SPADI) and the Numeric Rating Scale (NRS) were assessed to determine the reliability and validity of the questionnaires. To evaluate reliability, surveys were performed at baseline and a mean of 6 days later in 29 subjects who did not undergo any treatment for shoulder problems. To evaluate responsiveness, assessments were performed at baseline with 4-week intervals in 23 subjects with adhesive capsulitis who were administered triamcinolone injection into the glenohumeral joint. RESULTS: Fifty-two subjects with shoulder-related problems were surveyed. Cronbach alpha for internal consistency was 0.82 for the summary SDQ-K and 0.75 for the summary SRQ-K. The test-retest reliability of the SDQ-K, SRQ-K, and domains of the SRQ-K ranged from 0.84 to 0.95. The SDQ-K and SRQ-K summary scores correlated well with the SPADI and NRS summary scores. Generally, the effect sizes and standardized response means of the summary scores of the SDQ-K, SRQ-K, and domains of the SRQ-K were large, reflecting their responsiveness to clinical changes after treatment. CONCLUSION: The reliability, validity, and responsiveness of the SDQ-K and SRQ-K were excellent. The SDQ-K and SRQ-K are feasible for Korean patients with shoulder pain or disability.

Magnetic Resonance Neurographic Findings in Classic Idiopathic Neuralgic Amyotrophy in Subacute Stage: A Report of Four Cases

Neuralgic amyotrophy (NA) is characterized by acute onset of severe pain, followed by muscular weakness and wasting of the shoulder girdle. While the diagnosis of NA mainly relies on the clinical history and examination, some investigations including electrophysiologic study and radiologic study may help to confirm the diagnosis. Magnetic resonance neurography (MRN), a new technique for the evaluation of peripheral nerve disorders, can be helpful in the diagnosis of NA. MRN presents additional benefits in comparison to conventional magnetic resonance imaging in the diagnosis of idiopathic NA (INA). In this report, we present the first four cases of classic INA diagnosed with MRN in subacute stage. MRN imaging modality should be considered in patients clinically suspected of INA.

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffuse fatty infiltration and the 'central shadow' sign in thigh muscles. From the clinical information suggesting collagen type VI related muscle disorder, UCMD was highly considered. COL6A1 gene sequencing confirmed this patient as UCMD with novel c.904G>A (p.Gly302Arg) variant. If musculoskeletal and dermatologic manifestations and radiologic findings imply abnormalities in collagen type VI network, COL6A related congenital muscular dystrophy was to be suspected.

Incidence of Deep Vein Thrombosis after Spinal Cord Injury in Korean Patients at Acute Rehabilitation Unit

Deep vein thrombosis (DVT) and subsequent pulmonary embolism (PE) remain significant causes of morbidity, mortality in patients with spinal cord injury (SCI). Since incidence of DVT after SCI in Korean population has not been much studied, we retrospectively analyzed the medical records of 185 SCI patients admitted for acute rehabilitation unit to investigate the incidence of DVT. Color Doppler ultrasonography was performed to screen for the occurrence of DVT at the time of initial presentation to acute rehabilitation unit. Primary study outcome was the incidence of DVT. Possible risk factors for DVT including the epidemiologic characteristics, completeness of motor paralysis, cause of injury, spasticity, surgery, and active cancer were analyzed. The incidence of DVT after SCI was 27.6%. In multiple logistic regression analysis, absence of spasticity was a significant independent risk factor (P<0.05) for occurrence of DVT. Symptomatic pulmonary embolism was evident in 7 patients without an episode of sudden death. Therefore, it is concluded that the incidence of DVT after SCI in Korean patients is comparable with that in Western populations. This result suggests that pharmacologic thromboprophylaxis should be considered in Korean patients with SCI.

Brachial Plexopathy due to Myeloid Sarcoma in a Patient With Acute Myeloid Leukemia After Allogenic Peripheral Blood Stem Cell Transplantation

Myeloid sarcoma is a solid, extramedullary tumor comprising of immature myeloid cells. It may occur in any organ; however, the invasion of peripheral nervous system is rare. Herein, we report the case of myeloid sarcoma on the brachial plexus. A 37-year-old woman with acute myelogenous leukemia achieved complete remission after chemotherapy. One year later, she presented right shoulder pain, progressive weakness in the right upper extremity and hypesthesia. Based on magnetic resonance images (MRI) and electrophysiologic study, a provisional diagnosis of brachial plexus neuritis was done and hence steroid pulse therapy was carried out. Three months later the patient presented epigastric pain. After upper gastrointestinal endoscopy, myeloid sarcoma of gastrointestinal tract was confirmed pathologically. Moreover, 18-fluoride fluorodeoxyglucose positron emission tomography showed a fusiform shaped mass lesion at the brachial plexus overlapping with previous high signal lesion on the MRI. Therefore, we concluded the final diagnosis as brachial plexopathy due to myeloid sarcoma.

Clinical, Electrophysiological Findings in Adult Patients with Non-traumatic Plexopathies

OBJECTIVE: To ascertain the etiology of non-traumatic plexopathy and clarify the clinical, electrophysiological characteristics according to its etiology. METHOD: We performed a retrospective analysis of 63 non-traumatic plexopathy patients that had been diagnosed by nerve conduction studies (NCS) and needle electromyography (EMG). Clinical, electrophysiological, imaging findings were obtained from medical records. RESULTS: We identified 36 cases with brachial plexopathy (BP) and 27 cases with lumbosacral plexopathy (LSP). The causes of plexopathy were neoplastic (36.1%), thoracic outlet syndrome (TOS) (25.0%), radiation induced (16.7%), neuralgic amyotrophy (8.3%), perioperative (5.6%), unknown (8.3%) in BP, while neoplastic (59.3%), radiation induced (22.2%), neuralgic amyotrophy (7.4%), psoas muscle abscess (3.7%), and unknown (7.4%) in LSP. In neoplastic plexopathy, pain presented as the first symptom in most patients (82.8%), with the lower trunk of the brachial plexus predominantly involved. In radiation induced plexopathy (RIP), pain was a common initial symptom, but the proportion was smaller (50%), and predominant involvements of bilateral lumbosacral plexus and whole trunk of brachial or lumbosacral plexus were characteristic. Myokymic discharges were noted in 41.7% patients with RIP. Abnormal NCS finding in the medial antebrachial cutaneous nerve was the most sensitive to diagnose TOS. Neuralgic amyotrophy of the brachial plexus showed upper trunk involvement in all cases. CONCLUSION: By integrating anatomic, pathophysiologic knowledge with detailed clinical assessment and the results of ancillary studies, physicians can make an accurate diagnosis and prognosis.

Verification of the Dystonic Muscles Using 18F-Fluorodeoxyglucose Positron Emission Tomography in a Patient with Cervical Dystonia: A case report

Treatment of choice for cervical dystonia is botulinum toxin (BTX) injection and surgical interventions can be tried in refractory cases. Success of BTX injection depends on precise muscle selection and adequate dosage of BTX. 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) can evaluate the metabolism of the superficial and deep cervical muscles with high resolution and may be useful for identifying dystonic muscles in CD. We report a satisfactory result of BTX injection using 18F-FDG PET/CT for identification of dystonic muscles in a patient with cervical dystonia who previously failed to respond to botulinum toxin injection and denervation operation.

Clinical Characteristics, Electrodiagnostic, and Imaging Findings of Atypical Forms of Motor Neuron Disease

OBJECTIVE: To describe the clinical characteristics, electrodiagnostic, and imaging findings of Hirayama disease (HD), late onset monomelic amyotrophy (LMA), and brachial amyotrophic diplegia (BAD). METHOD: A retrospective analysis of the medical records, electrodiagnostic, and imaging findings of 12 patients (4 HD, 2 LMA, 6 BAD) was done. For patients whose last clinic follow-up exceeded 6 months a telephone survey was done to see if there were any symptom changes. RESULTS: The clinical, electrodiagnostic, and imaging findings of the HD and BAD patients were similar to previous studies. Except for a later onset, age disease duration was too short to distinguish LMA from HD or other motor neuron diseases. One patient in the BAD group progressed to amyotrophic lateral sclerosis (ALS) and another died due to undetermined respiratory failure. These two patients showed abnormalities in their lower extremities, thoracic paraspinal, and craniocervical muscles on needle electromyography. Except for another patient, none of the other three patients showed abnormalities in their lower extremities, thoracic paraspinals, or craniocervical muscles on needle electromyography. CONCLUSION: HD and BAD can be considered as separate disease entities. However, a longer follow-up period than previously recommended is necessary to differentiate BAD from ALS. Follow-up period was too short to determine whether LMA can also be considered as a separate disease entity.

Subacute Progressive Ascending Myelopathy: A case report

Subacute progressive ascending myelopathy is a rare condition complicating spinal cord injury, unrelated to mechanical compression, instability, hemorrhage or syrinx formation. Clinically, ascending neurological deficit may extend at least two segments above the level established at the initial insult within the first 3 weeks of the initial spinal cord insult. MR imaging characteristically demonstrates cord changes ascending at least four vertebral levels above the initial injury site. The development of progressive myelopathy is a dreaded complication of spinal cord injury and is not misunderstood for post-op complication. We describe a case of a 29-year-old male patient who suffered a falling down accident. He initially presented with a T12 vertebral fracture with associated cord compression and signal changes in the spinal cord. During the subsequent 3 weeks, he developed progressive sensory changes with cord signal abnormalities on magnetic resonance imaging extending above from the injury site.

Prevalence and Association Factors of Posterior Longitudinal Ligament in Patients with Spondyloarthropathies

OBJECTIVE: To investigate prevalence of ossification of posterior longitudinal ligament (OPLL) in Korean patients with Spondyloarthropathies (SpA), and the associations between OPLL and clinical, radiologic findings of SpA. METHOD: A cross-sectional radiological review was performed in patients diagnosed with SpA from 2000 to 2007. Each of two physiatrists and musculoskeletal radiologists screened the cervical (lateral) and pelvis (anterior-posterior) radiographs of these patients separately, then confirmed presence of OPLL. Bath ankylosing spondylitis radiology index (BASRI) of the cervical spine and grade of sacroiliitis were also measured. A review of the medical records and laboratory findings was conducted to investigate the association between the clinical, laboratory findings and the OPLL. RESULTS: Among 172 patients with SpA, OPLL was found in 16 patients (9.3%; 95% CI 5.0, 13.6). There were significant associations between OPLL and old age (p=0.043), symptoms and signs of myeloradiculopathy (p=0.030), and diabetes mellitus (DM) (p=0.022). CONCLUSION: The prevalence of OPLL in Korean patients with SpA is 9.3%. OPLL in patients with SpA is associated with old age, symptoms and signs of myeloradiculopathy, and diabetes. However, no factors specific characteristics of SpA were associated with OPLL.

The Prevalence and Clinical Features of Diffuse Idiopathic Skeletal Hyperostosis in the Patients with Dorsal Back Pain

OBJECTIVE: To investigate the prevalence and clinical features of diffuse idiopathic skeletal hyperostosis (DISH) in patients with dorsal back pain. METHOD: A total of 229 patients (119 men and 110 women) with dorsal back pain were included. Medical records including age, sex, chief complaints, medical history, physical findings, laboratory data, and musculoskeletal radiographs were reviewed retrospectively. RESULTS: Twenty-seven (11.8%, by Resnick's criteria) and thirty-eight (16.6%, by Julkunen's criteria) of the 229 patients were diagnosed with DISH by thoracic spine radiographs. A significant increase of risk with age was observed (Resnick's criteria: odds ratio 1.10, 95% CI 1.05~1.16, p< 0.001, Julkunen's criteria: odds ratio 1.08, 95% CI 1.04~1.12, p<0.001). Male sex (Resnick's criteria: odds ratio 2.65, 95% CI 1.01~6.95, p=0.048, Julkunen's criteria: odds ratio 2.87, 95% CI 1.27~6.59, p=0.011) and inflammatory pain (Resnick's criteria: odds ratio 7.76, 95% CI 2.69~22.33, p<0.001, Julkunen's criteria: odds ratio 3.84, 95% CI 1.55~9.47, p=0.004) showed higher risk for development of DISH. Mean body mass index of patients with DISH were higher in all age groups, and they showed higher prevalence of DM and hyperlipidemia than general population. CONCLUSION: Patients with dorsal back pain showed higher prevalence of DISH than previous results with random samples. Aging, male sex and inflammatory pain might be a risk factor for development of DISH. Also, obesity, DM and hyperlipidemia might be strongly related with DISH.

Diagnostic Approach in Patients Presenting with Inflammatory Back Pain

OBJECTIVE: To investigate the etiologic diseases of inflammatory back pain (IBP) and to propose a diagnostic algorithm for approaching the patients with IBP. METHOD: One-hundred-and-forty patients with IBP visiting the clinic for spinal disorders were involved. Clinical features of spondyloarthropathy (SpA) through medical records, presence of intervertebral disc disease, sacroiliitis and degenerative spondylosis through plain radiography and magnetic resonance image (MRI) of spine and pelvis, HLA B27 positivity, and quantitative laboratory results of acute phase reactant were retrospectively reviewed. RESULTS: Diverse spinal disorders were indentified as etiologic diseases for IBP that were SpA (44 patients), diffuse idiopathic skeletal hyperostosis (DISH) (15 patients), degenerative spondylosis (15 patients), HLA B27 associated IBP (14 patients), lumbosacral radiculopathy (4 patients), and others (48 patients). When onset age was less than 45 years, the most frequent cause was SpA. When onset age was more than 45 years, DISH and degenerative spondylosis were the most frequent causes. Onset age (p=0.002), age at presenting to clinic (p=0.001), number of items satisfying IBP criteria (p=0.001), HLA B27 positivity (p=0.000), and elevated acute phase reactant (p=0.002) were statistically associated with SpA. CONCLUSION: The relative frequency among various etiologic disease of IPB is different depending on the onset age of IPB. Onset age of IBP, numbers of items satisfying IBP criteria, and laboratory test for HLA B27 and acute phase reactant can be useful factors for determining the causes of IBP, especially for diagnosing SpA. Diagnostic algorithm for approaching the patients with IBP is proposed according to the sensitivity and specificity of the factors which have statistically meaningful relationship with diagnosis of SpA.

Effects of Robot-assisted Gait Therapy on Locomotor Recovery in Stroke Patients

OBJECTIVE: To investigate the effects of robot-assisted gait therapy on locomotor recovery in hemiparetic patients after stroke. METHOD: Twenty five stroke patients were randomly divided into 2 groups. Robotic training group received 30 minutes of robot-assisted gait therapy, 3 times a week for 4 weeks, while control group received conventional gait training with same duration and frequency as robotic group. Outcome was measured using Motricity index, Fugl-Meyer assessment (FMA), function ambulation category, modified motor assessment scale, 10-meter gait speed, isometric torque, Ashworth scale, gait analysis, body tissue composition, and Beck's depression inventory (BDI). RESULTS: Robotic training group showed significant improvement in motor functions measured by Motricity Index, FMA, 10-meter gait speed, isometric torque of hip compared with the baseline and with those of control group. Ashworth scale of hip, BDI, and muscle mass showed significantly greater improvement in robotic training group than control group. In gait analysis, stride length of unaffected leg demonstrated significant improvement in robotic training group (p<0.05). CONCLUSION: The robot-assisted gait therapy with body weight-support is considered to facilitate locomotor recovery of the hemiparetic stroke patient.

HLA-B27 Positive and HLA-B27 Negative Ankylosing Spondylitis: A Comparative Study in Diagnostic Process and Clinical Features

OBJECTIVE: To investigate the differences in clinical and radiologic features between HLA-B27 positive ankylosing spondylitis (AS) and HLA B27 negative AS METHOD: Ninety-nine consecutive patients who were suspected as AS in initial diagnostic process were studied. HLA-B27 was examined with microlymphocytotoxicity method in all patients. A radiologist and a physiatrist re- read plain pelvis radiographies of all patients. Difference in onset age and C-reactive protein (CRP) depending on HLA B27 status and an association between HLA B27 status and clinical and radiologic features were tested. RESULTS: Sacroiliitis (> or =bilateral grade 2) was identified in 63 of 77 patients with HLA B27 and 7 of 22 patients without HLA B27 through the re-reading process. Ten percent of definite AS was HLA B27 negative AS. Five of 22 patientswithout HLA B27 were diagnosed as diffuse idiopathic skeletal hyperostosis. There was a significant association between sacroiliitis (> or =bilateral grade 2) and HLA B27 (p or =unilateral grade 1). None of clinical and radiologic parameters are associated with HLA B27 status. It does not make difference in onset age of AS. To make a more concrete conclusion, a study of a much larger number of HLA B27 negative AS patients will be necessary.

Stiff-man Syndrome: A case report

The stiff-man syndrome is a rare and disabling disorder, characterized by muscle rigidity with superimposed painful spasms involving axial and limb musculature. The clinical symptoms are continuous contraction of agonist and antagonist muscles caused by involuntary motor-unit firing at rest and spasms precipitated by tactile stimuli, passive stretch, volitional movement of muscles, startling noises and emotional stimuli. The cause of stiff-man syndrome is unknown but an autoimmune pathogenesis is suspected. The presence of antibodies against glutamic acid decarboxylase, the asso-ciation of the disease with other autoimmune disorders, and the presence of various autoantibodies contribute to the assumption. The stiff-man syndrome is clinically elusive, but potentially treatable and should be considered in patients with unexplained stiffness and spasms. Drugs that enhance GABA neurotransmission, such as diazepam and baclofen, provide modest relief of clinical symptoms. We described three patients with clinical and electrophysiologic feature of stiff-man syndrome.